Variant ID: 98 |
Type | Deletion |
---|---|---|
Effect | Frameshift | cDNA Change | c.814delC |
Amino Acid Change | p.(Leu272*) (Legacy AA No. 232) | |
Domain | Serine Protease | |
Sequence Context | ||
Location | Exon 7 | |
Minor Allele Frequency (MAF) | ||
Pathogenicity (ACMG)![]() |
TBA | |
Comments on Variant |
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The details of the cases reported with the above variant are listed below
Case ID | Other Variants found in case |
Genotype | FX:C (%) intrinsic | FX:C (%) extrinsic | FX:C (%) RVV | FX:C (%) unknown | FX:Ag (%) | Reported Bleeding Severity |
Gender of Case | Published Reference | Comments on Case |
---|---|---|---|---|---|---|---|---|---|---|---|
4 | Heterozygous | 14 | 36 | Mild | Not Reported | Reddy et al 1989 | Postoperative bleeding; probable compound heterozygote |